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Deletion size analysis of 1,680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2 Guo, Tingwei; Diacou, Alexander; Hiroko, Nomaru; McDonald-McGinn, Donna M; ... Morrow, Bernice E 2018
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis Gueneau, Lucie; Fish, Richard; Shamseldin, Hanan E.; Voisin, Norine; ... Reymond, Alexandre 2018
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Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia Grimaldi, Mariagrazia; Karaca Emre, Melis; Latini, Livia; Brioudes, Estelle; ... Maechler, Pierre 2017
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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; ... Valente, Enza Maria 2017
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU Korff, Christian; Bottani, Armand 2017
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Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus Odhams, Christopher A.; Cortini, Andrea; Chen, Lingyan; Roberts, Amy L.; ... Cunninghame Graham, Deborah S. 2017
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New molecular insights into modulation of platelet reactivity in aspirin-treated patients using a network-based approach Zufferey Bakos, Anne; Ibberson, Mark; Reny, Jean-Luc; Nolli, Severine; ... Fontana, Pierre 2016
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Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP. Escoffier Breancon, Jessica; Lee, Hoi Chang; Yassine, Sandra; Zouari, Raoudha; ... Arnoult, Christophe 2016
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DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome Joshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli Emilia; ... Sharp, Andrew James 2016
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
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Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis Hinds, David A; Buil Demur, Alfonso Alberto; Ziemek, Daniel; Martinez-Perez, Angel; ... Sabater-Lleal, Maria 2016
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Fetal Intra-Peritoneal Transfusion for the Management of Very Early Spontaneous Twin Anemia-Polycythemia Sequence in an Obese Patient With a Whole Anterior Placenta Guenot, Cécile; Robyr, Romaine; Jastrow Meyer, Nicole; Vial, Yvan; ... Baud, David 2016
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy French Parkinson's Disease Genetics Study, International Parkinson's Disease Genomics Consortium 2016
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Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes Glastonbury, Craig A.; Viñuela, Ana; Buil Demur, Alfonso Alberto; Halldorsson, Gisli H.; ... Small, Kerrin S. 2016
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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Assoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; ... Thevenon, Julien 2016
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GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability Lodder, Elisabeth M; De Nittis, Pasquelena; Koopman, Charlotte D 2016
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Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome Mlynarski, Elisabeth E.; Xie, Michael; Taylor, Deanne; Sheridan, Molly B.; ... Emanuel, Beverly S. 2016
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Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder Hou, Liping; Bergen, Sarah E; Akula, Nirmala; Song, Jie; ... Landén, Mikael 2016
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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy Rudolf, Gabrielle; Lesca, Gaetan; Fluss, Joel Victor; Abbas, Mohamed 2016
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Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior Cornelis, Marilyn C; Kacprowski, Tim; Menni, Cristina; Gustafsson, Stefan; ... Ingelsson, E 2016
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